KEGG   DISEASE: Congenital hyperthyroidism
Entry
H01269                      Disease                                

Name
Congenital hyperthyroidism
  Subgroup
Familial gestational hyperthyroidism (HTFG)
Hyperthyroidism non-autoimmune (HTNA)
Description
Congenital hyperthyroidism is a rare clinical condition, and in most cases, it is a transient disorder caused by maternal Graves disease associated with the transplacental passage of maternal thyroid-stimulating antibodies. Germline mutations of thyrotropin receptor (TSHR) gene determining a constitutive activation of the receptor were identified as a molecular cause of congenital nonautoimmune hyperthyroidism. TSHR gene mutations also causes the familial gestational hyperthyroidism, that is characterized by thyrotoxicosis and hyperemesis gravidarum.
Category
Endocrine disease
Brite
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
  Thyroid gland diseases
   H01269  Congenital hyperthyroidism
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Disorders of the thyroid gland or thyroid hormones system
    5A02  Thyrotoxicosis
     H01269  Congenital hyperthyroidism
Network
  Element
N00797  Mutation-activated TSHR to TSH-TG signaling pathway
Gene
TSHR [HSA:7253] [KO:K04249]
Other DBs
ICD-11: 5A02
ICD-10: E05.8
MeSH: C563786 C566384
OMIM: 603373 609152
Reference
  Authors
Agretti P, De Marco G, Biagioni M, Iannilli A, Marigliano M, Pinchera A, Vitti P, Cherubini V, Tonacchera M
  Title
Sporadic congenital nonautoimmune hyperthyroidism caused by P639S mutation in thyrotropin receptor gene.
  Journal
Eur J Pediatr 171:1133-7 (2012)
DOI:10.1007/s00431-012-1702-z
Reference
  Authors
Asteria C
  Title
TSH receptor gene mutations and familial gestational hyperthyroidism.
  Journal
Eur J Endocrinol 141:93-4 (1999)
DOI:10.1530/eje.0.1410093
Reference
PMID:20172477 (drug)
  Authors
Leung AM, Pearce EN, Braverman LE
  Title
Perchlorate, iodine and the thyroid.
  Journal
Best Pract Res Clin Endocrinol Metab 24:133-41 (2010)
DOI:10.1016/j.beem.2009.08.009
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